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genetics > applications A & B > Flashcards

applications A & B Flashcards

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1
Q

medical genetics

A

focuses on diagnosis and management of medical, psychological, and social aspects of diseases involving the mutation or influence of genes

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2
Q

family focus of medical genetics

A

related to both medical care/management of patient and forward-looking consideration of future offspring

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3
Q

3 types of hereditary disease

A
  1. mendelian conditions
  2. chromosomal conditions
  3. multifactorial conditions
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4
Q

mendelian conditions

A
  • caused by mutation of single gene
  • autosomal dominant/recessive, X-linked dominant/recessive, Y-linked, mitochondrial
  • inherited from one or both parents, or new mutation
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5
Q

chromosomal conditions

A
  • extra chromosome, missing chromosome, duplication/deletion of segment, structural rearrangements
  • developmental/physical abnormalities can result due to human sensitivity Gene Dosage
  • autosomes or sex chromosomes
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6
Q

multifactorial conditions

A
  • multiple genes and environmental factors
  • increased likelihood = inherited susceptibility
  • differing mutant allele frequencies
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7
Q

ex. of chromosomal condition

A

trisomy 21

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8
Q

ex. of multifactorial condition

A

diabetes

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9
Q

different types of testing for genetic conditions

A
  1. molecular analysis of DNA/RNA
  2. biochemical analysis
  3. chromosome analysis
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10
Q

molecular analysis tests

A

useful when suspicion of specific Mendelian condition

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11
Q

biochemical analysis

A

tests blood or tissues for absence or presence of certain proteins as well as levels

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12
Q

chromosome analysis

A

chromosomal causes of:
- fetal or infant malformations
- mental impairment/physical abnormalities
- long-term infertility in adults

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13
Q

carrier testing

A

identifies individuals who are heterozygous for recessive conditions or have chromosomal abnormality that could produce condition in future child

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14
Q

do carrier individuals who undergo carrier testing have the genetic condition?

A

no

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15
Q

ex. of carrier frequency being so high that carrier testing is a public health effort

A

Tay-Sachs disease in Ashkenazi Jewish populations

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16
Q

pre-symptomatic testing

A

used for genetic conditions with l ate age of onset

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17
Q

ex. of disease tested with pre-symptomatic testing

A

autosomal dominant Huntington disease
- by age 40, only about 50% of people show condition

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18
Q

newborn testing

A

consists of set of mandated genetic tests that together require only a few drops of blood from a “heel stick”

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19
Q

in 2003, the advisory committee established the ______________ ________________ ____________ that contained list of genetic disease recommended for testing

A

Recommended Uniform Screen Panel (RUSP)

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20
Q

what do nearly all states test for

A

34 “core” hereditary conditions

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21
Q

additional conditions that states might include testing for

A

25 “secondary” conditions

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22
Q

what is newborn genetic screening considered?

A

public policy intended to save lives, reduce medical costs, and support well-being of families

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23
Q

what do positive test results of genetic screening allow

A

immediate start of treatment

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24
Q

prenatal testing

A

performed during pregnancy to detect a condition in a fetus including chromosomal abnormalities and developmental defects

25
Q

types of prenatal testing

A
  1. chorionic villus sampling (CVS)
  2. amniocentesis
    - sometimes ultrasound
26
Q

chromosome conditions are unlikely to be ________-

A

treatable

27
Q

ex. of condition identified by prenatal testing

A

trisomy 21

28
Q

what can prenatal testing trigger

A

ethical conflicts about keeping or terminating an affect pregnancy

29
Q

amniocentesis

A

uses needle to penetrate uterus and placenta of pregnant woman to obtain amniotic fluid, which contains fetal cells

30
Q

when is amniocentesis performed

A

obtains cells between 14th-18th week of pregnancy

31
Q

danger of amniocentesis

A

risk of fetal loss

32
Q

chorionic villus sampling (CVS)

A

small tube passed transvaginally into uterus to obtain tissue from the chorion (fetal derived portion) on the outside of the placenta

33
Q

when is CVS performed

A

cells obtained as early as 10th week

34
Q

is CVS or amniocentesis riskier

A

CVS

35
Q

maternal serum screening

A

measures level of 3 proteins in pregnant woman’s blood between 15th-20th week of gestation

36
Q

what are the proteins screened for in woman associated with

A

2 trisomy conditions and neural tube defect

37
Q

is MSS screening or diagnostic

A

screening

38
Q

how is screening test different from diagnostic test

A

it indicates increased likelihood of condition rather than presence of a condition

39
Q

what are abnormal MSS results followed with

A

recommendation of amniocentesis or CVS

40
Q

ultrasound

A

produces images of fetus that can be used to diagnoses certain conditions, such as neural tube defect and other developmental abnormalities

41
Q

what can ultrasounds be used routinely for

A

accurate measurement of fetal age
- this can determine due date
fetal sex

42
Q

if MSS suggests possibly Down syndrome, what may be recommended

A

karyotyping

43
Q

fetal cell sorting

A

identifies and isolates fetal cells in maternal blood circulation for DNA and chromosome analysis

44
Q

ex. of conditions identified by fetal cell sorting

A

cystic fibrosis and spinal muscular atrophy

45
Q

preimplantation screening

A

tests for hereditary diseases in fertilized embryos produced by in-vitro fertilization

46
Q

in vitro fertilization (IVF)

A

long-standing method of assisted reproduction for ind. and couples
- expensive, not usually covered by insurance

47
Q

process of in vitro fertilization

A
  • ovulation induced in woman using hormone injections
  • eggs removed for surface of ovaries
  • eggs stored or used immediately for fertilization
  • fertilized eggs implanted in uterus
48
Q

why might fertilized eggs have one cell removed?

A

for preimplantation screening using PCR to identify recessive genetic conditions when parents are normal carriers

49
Q

success rates of in vitro fertilization

A

15-40%, depending on age of woman

50
Q

direct to consumer testing is run by what kind of company?

A

for-profit comapnies

51
Q

what does direct to consumer testing often duplicate

A

medically available genetic carrier testing

52
Q

various types of direct to consumer testing offered

A
  • ancestry
  • carrier status
  • drug response
  • likelihood of certain physical traits
53
Q

what did the US Food and Drug Administration approve in April 2017?

A

genetic testing by 23&Me to indetify individual’s risk of developing 10 medical conditions influence by genetics

54
Q

individuals more likely to carry the 10 medical conditions carry certain what?

A

single nucleotide polymorphism (SNP) variants

55
Q

do SNP markers cause or show association with the conditions?

A

show association

56
Q

public health concerns with direct to consumer genetic testing

A
  • how genetic counseling and medical monitoring will be accessed, paid for, and managed
  • view of ourselves that was unavailable in previous generations
57
Q

Ethical , Legal, and Social Implications (ELSI) purpose

A
  • examine design/conduct of GENETIC RESEARCH
  • studying use/influence of GENETIC HEALTH CARE
  • investigation of SOCIETAL ISSUES
  • examine impact of legal, regulatory, and public POLICIES
58
Q

Genetic Information Nondiscrimination Act (GINA) of 2008

A

severely restricts use of personal genetic information in issuing health insurance and life insurance, and in employment decisions

59
Q

Affordable Care Act (ACA) of 2010

A

excludes use of personal genetic information in issuing health insurance as part of clause preventing use of preexisting conditions as basis for rejection

genetics (37 decks)

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